Maddie

Paige...kinda looks like she is about to sneeze


This is my friend Stacia, who goes with Maddie and I to Boston Children's. Best city driver you will ever find...for a Vermonter:)

This is Maddie taking some of her first steps in Boston...She walking on the "Stay off the grass" grass...oops

Walking!

It is official...she is a walker! I never thought it would be this soon! Just 3 months ago she learned to crawl! She is doing so well and looks very funny with her legs bowed and teetering her weight side to side :) She is really enjoying this new adventure.

We got our Christmas tree today and decorated it so nicely...We had saved just enough bulbs from last year. It really was perfect until the thing randomly fell down breaking some of the bubs...I guess we need to by some new ones now. Paige really likes the lights and Christmas music. I thought Maddie would really like the lights but her eyes were not so great today so I don't think she was too into them. This is the time of year that I really enjoy. I have great memories of all of us at Hosea House.... and then to Aunt Gail's for a yummy Thanksgiving dinner and to celebrate Grandma's birthday. We would all sing Christmas music and laugh like crazy. Grandpa would take his prickly cheeks and give us all raspberries...and although you really wanted to cry because it hurt so bad, you couldn't help but laugh until you peed. I still occasionally smell something cooking and it brings me back to this time. I sure do miss us all together.

We had a great quiet Thanksgiving here. I cooked and didn't even use the microwave! I think I really impressed Rob! The food was great and the left overs are already gone!

Maddie has had a really good week so far. She goes through good weeks and bad and I am hoping this good one lasts longer than usual. We could use the break as her last "bad week" lasted over 2 weeks. I give her Motrin because I am pretty sure her pediatrician thinks she is having migraines. I think this is why he thinks she is photophobic...but not sure. Her tone has been very good in the last week as well. Very few "episodes" of weakness-she has this episodic weakness randomly sometimes. At first I thought it was her throwing a fit and wanting to just cry into my lap or blanket. Then one of her therapists suggested that I put her away from me when she started a "fit" and see if she could get up...They were right...she couldn't. She has these a lot during her bad weeks.

So even though she has had a great week so far, her sleeping (or lack of) unfortunately is back to making me crazy! I really try everything. Tonight I thought maybe, just maybe her throwing up when I let her cry was something of the past so I tried yet again the freeking Ferberizing Method. She made it 3 minutes and then projectile vomited across her room....yummy.
So, this is still a work in progress. We still have to use the baby swing to calm her...I know she is probably way too old at 14 months for this but whatever works is the method we have decided to take with Maddie. Otherwise we would be even more insane than we already are.

So that is is for the weekend. I hope this works for everyone. Make sure to click the follow this blog section on the left of the blog and set up a profile. This way if you have any questions you can ask right through the blog. I will continue to update often!

ARRRRRRRRrr Maddie

Here is Maddie in one of her Halloween costumes...Her eyes were not great this day but fit right with her pirate costume :)

To our family!!!

11/26/2009

We have finally decided to start this blog for all of you as I know you have all been wondering how things are going with Maddie's health. With both the girls running around, it is hard to make the phone calls that we should be making so this should help. I can give everyone updates as we get them and be able to share our successes with you all. I can also try to explain some of the complex things Maddie has. I am excited to be in touch with you all and thank-you all so much for all your kind thoughts, cards, and prayers.

Maddie and Paige have grown so much in the last months it is crazy! Maddie turned 1 in September and Paige 3 in November! Time really flies!

So just a recap of where we have been thus far...Here comes the long part so don't start this if you are really tired!
Maddie was tested at 7 months old for developmental problems. She scored at around a 3 month level of developement in every level. They call it globally delayed. Around this same time her head showed to have gotten really big really fast (macrocephally). She also seemed to be a bit "floppy" (hypotonia)...and then she started having these weird spastic arm movements. This was the beginning of the video taping. I showed docs the pediatrician on call the video and they thought she was having seizures...Well long story short, after a night of tests and evaluations, Maddie was not having seizures. She had an eeg and MRI. EEG normal...The MRI showed something called benign Hydrocephalus...Sounds worse than it is- This is actually too much fluid OUTSIDE the brain. It is supposed to cause little to no problems and completely resolve by 3-4 years old. This was great news...we thought. However, Maddie continued to have problems and we did not understand why she was still having so many problems if it was only supposed to be minimal. We begged the neurologist in Vermont to take us seriously and tell us why she was struggling so hard. This neuro is known for her sit back approach and really wanted to do the wait and see thing...which I was fine with at first. Maddie continued to have bizarre spastic movements and then stiffening episodes.

She really struggled with eating bottles from people and frequently needed to be fed while laying on the floor or couch. She did not like to be held or cuddled much at all. At 10 months a light bulb went off and she started doing things. She started crawling and enjoying people. Her milestones just started coming one after another in like 2 weeks! I felt good and started feeling better about the wait and see approach.

Then at 11.5 months something bizarre happened. It was a Saturday morning and Maddie woke up a bit crabby. I put her right in her highchair and got her breakfast. I noticed she was not looking up and was rubbing her face a lot. I gave her a waffle and watched her eat the whole thing with her eyes closed. She was acting blind or something...feeling around for her food. It took about 3 hours for her eyes to really open. I noticed after that, every time I put her down to change her diaper she closed her eyes...like a baby doll with those eyes that open and close to the position change. She was doing the same thing. I knew something was wrong. Went to the peds twice that weekend. She is severely photophobic (fear of light.)They called Maddie's neuro and asked if she should go in for testing right away. The neuro said no and that she thought it was just a virus. I knew it wasn't. The pediatrician ordered an MRI that Tuesday against what the neuro wanted.

This was the day we learned Maddie had more than just benign Hydrocephalus.
After the MRI we had to go right to the opthamologist to have her eyes checked. The opto needed a copy of the MRI findings (we had not gotten them yet.) The hospital faxed them over and there it was...Cortical Dysplasia in the right Cingulate Gyrus with signal abnormality in the corpus callosum....We now know the abnormalities are called heterotopias... I did not know what this was so I called someone I knew and had them google it while I was waiting in the office at the opto.

A quick lesson on Cortical Dysplasia...The best way to describe it is this:
When an embryo is starting to develop the center of the brain begins to develop and create cells and nerons...These start out in the middle of the brain and eventually make their way (or migrate) to the appropriate place in your brain. In Cortical Dysplasia and heterotopias, the cells basically get stuck and don't make it to their appropriate place in the brain. Because of this, the normal matter builds up in that area creating a dysplasia. Because this dysplasia disrupts the normal activity of the brain, it affects the functions a person has that normally utilizes that part of the brain. It is also one of the common causes of childhood epilepsy and frequently causes seizures.

Later in the week Maddie's pediatrician explained it all to me. He was clear and honest. He explained that we now had more of an understanding as to why Maddie has had to struggle so hard thus far. He also suggested that Maddie have a 24 hour eeg to rule out seizures. We went to the Vermont neuro for the last time that same week.

She seemed ticked off that the pediatrician ordered the MRI against her wishes. She even asked me if it was Dr. Dimichele who ordered it and shook her head when I told her he did...It was so inappropriate! She completely contradicted what the pediatrician said and tried to talk us out of having the eeg. I stood my ground stating that I did not want to wait a year to find out that she is having them. She agreed reluctantly and I was pissed that she made me feel like a horrible
mom for wanting the test. This was the day I knew it was time to get some help somewhere else.

Thanks to my Mom and her great neighbor and sister, Maddie is now being seen by 2 neurologists in Boston at Children's Hospital. They have been amazing! They sent us directly for genetic testing and to the Tuberous Sclerosis Clinic for further testing. We then were scheduled for a 3rd eeg there in Boston after the 2nd came back normal.

We have since received ALL the test results...Everything was normal including the eeg except for the Tuberous Sclerosis test. The result that she got for this test is very complicated to explain so I wont go into too much detail...She tested positive for having a "variant of unknown significance in the TSC1 gene"...So, basically without boring you all with the nitty gritty, this means that Rob and I have to get tested for this same gene mutation. If either of us have the same mutation she DOES NOT have TSC because this is called a polymorphism...which is nothing...If neither of us have the same gene reading on this gene, than she has a variant of the mutation gene that causes Tuberous Sclerosis Complex.
TSC causes benign tumors to grow throughout the body. It can be really bad or not so bad. Thus far if this is what Maddie has, it would be considered relatively mild compared to other cases.

So, if you are still reading this and are awake at this point, this is where we are now. We are waiting for the tests to be mailed to us so we can go get tested.

Do you feel like you could get your medical degree yet? I know with all the Googleness I have been doing, I sure could :)

Maddie is doing great right now. We have good days and bad with her eyes. She is starting to learn to walk already at 14 months old! We thought this would be much later! She finally says her first words...All du (all done.) She also is much more cuddly and actually has let me hold her to sleep a few times recently. Sleep is a love hate relationship still. Some nights are great and others she could be up over 20 times a night. I will update with pictures too.

Paige is great too! She is really doing well despite the craziness with Maddie. Rob is hanging in there and really doing well taking in the info. He is very supportive and too loves watching Maddie overcome the obstacles that has thus far.

So this is a start...this one was very long so I could catch everyone up. Hope it wasn't too boring.
Today is Thanksgiving and I am so very thankful for what God has given me no matter how difficult it may be. Happy Thanksgiving!